Publications:

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Recapitulating thyroid cancer histotypes through engineering embryonic stem cells.

Nature Communications

Veschi, Veronica V; Turdo, Alice A; Modica, Chiara C; Verona, Francesco F; Di Franco, Simone S; Gaggianesi, Miriam M; Tirrò, Elena E; Di Bella, Sebastiano S; Iacono, Melania Lo ML; Pantina, Vincenzo Davide VD; Porcelli, Gaetana G; Mangiapane, Laura Rosa LR; Bianca, Paola P; Rizzo, Aroldo A; Sciacca, Elisabetta E; Pillitteri, Irene I; Vella, Veronica V; Belfiore, Antonino A; Bongiorno, Maria Rita MR; Pistone, Giuseppe G; Memeo, Lorenzo L; Colarossi, Lorenzo L; Giuffrida, Dario D; Colarossi, Cristina C; Vigneri, Paolo P; Todaro, Matilde M; Stassi, Giorgio G

Publication Date: 2023-03-11

Variant appearance in text: BRAF: G593S

PubMed Link: 36906579

Variant Present in the following documents:

• 41467_2023_36922_MOESM4_ESM.xls, sheet 2

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Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One

Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS

Publication Date: 2018

Variant appearance in text: BRAF: G593S

PubMed Link: 29698444

Variant Present in the following documents:

• pone.0196434.s001.xlsx, sheet 2
• pone.0196434.s001.xlsx, sheet 3
• pone.0196434.s001.xlsx, sheet 1

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Circulating tumour DNA sequence analysis as an alternative to multiple myeloma bone marrow aspirates.

Nature Communications

Kis, Olena O; Kaedbey, Rayan R; Chow, Signy S; Danesh, Arnavaz A; Dowar, Mark M; Li, Tiantian T; Li, Zhihua Z; Liu, Jessica J; Mansour, Mark M; Masih-Khan, Esther E; Zhang, Tong T; Bratman, Scott V SV; Oza, Amit M AM; Kamel-Reid, Suzanne S; Trudel, Suzanne S; Pugh, Trevor J TJ

Publication Date: 2017-05-11

Variant appearance in text: BRAF: G593S

PubMed Link: 28492226

Variant Present in the following documents:

• ncomms15086-s3.xlsx, sheet 1

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Activated MEK cooperates with Cdkn2a and Pten loss to promote the development and maintenance of melanoma.

Oncogene

Yang, H H; Kircher, D A DA; Kim, K H KH; Grossmann, A H AH; VanBrocklin, M W MW; Holmen, S L SL; Robinson, J P JP

Publication Date: 2017-07-06

Variant appearance in text: BRAF: G593S

PubMed Link: 28263969

Variant Present in the following documents:

• Main text

View BVdb publication page

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Spatio-temporal mutation profiles of case-matched colorectal carcinomas and their metastases reveal unique de novo mutations in metachronous lung metastases by targeted next generation sequencing.

Molecular Cancer

Kovaleva, Valentina V; Geissler, Anna-Lena AL; Lutz, Lisa L; Fritsch, Ralph R; Makowiec, Frank F; Wiesemann, Sebastian S; Hopt, Ulrich T UT; Passlick, Bernward B; Werner, Martin M; Lassmann, Silke S

Publication Date: 2016-10-18

Variant appearance in text: BRAF: 1777G>A; Gly593Ser

PubMed Link: 27756406

Variant Present in the following documents:

• 12943_2016_549_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of the BRAF V600E mutation in gastroenteropancreatic neuroendocrine tumors.

Oncotarget

Park, Charny C; Ha, Sang Yun SY; Kim, Seung Tae ST; Kim, Hee Cheol HC; Heo, Jin Seok JS; Park, Young Suk YS; Lauwers, Gregory G; Lee, Jeeyun J; Kim, Kyoung-Mee KM

Publication Date: 2016-01-26

Variant appearance in text: BRAF: G593S

PubMed Link: 26684240

Variant Present in the following documents:

• Main text
• oncotarget-07-4024.pdf

View BVdb publication page

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: BRAF: 1777G>A; G593S

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1
• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 1

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Amplicon sequencing of colorectal cancer: variant calling in frozen and formalin-fixed samples.

Plos One

Betge, Johannes J; Kerr, Grainne G; Miersch, Thilo T; Leible, Svenja S; Erdmann, Gerrit G; Galata, Christian L CL; Zhan, Tianzuo T; Gaiser, Timo T; Post, Stefan S; Ebert, Matthias P MP; Horisberger, Karoline K; Boutros, Michael M

Publication Date: 2015

Variant appearance in text: BRAF: G593S

PubMed Link: 26010451

Variant Present in the following documents:

• pone.0127146.s014.xlsx, sheet 3

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Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

Molecular Systems Biology

Kiel, Christina C; Serrano, Luis L

Publication Date: 2014-05-06

Variant appearance in text: BRAF: G593S

PubMed Link: 24803665

Variant Present in the following documents:

• MSB-10-5-727-s13.xls, sheet 1

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A meta-analysis of somatic mutations from next generation sequencing of 241 melanomas: a road map for the study of genes with potential clinical relevance.

Molecular Cancer Therapeutics

Xia, Junfeng J; Jia, Peilin P; Hutchinson, Katherine E KE; Dahlman, Kimberly B KB; Johnson, Douglas D; Sosman, Jeffrey J; Pao, William W; Zhao, Zhongming Z

Publication Date: 2014-07

Variant appearance in text: BRAF: 1777G>A; G593S

PubMed Link: 24755198

Variant Present in the following documents:

• Main text

View BVdb publication page

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Frequent MAGE mutations in human melanoma.

Plos One

Caballero, Otavia L OL; Zhao, Qi Q; Rimoldi, Donata D; Stevenson, Brian J BJ; Svobodová, Suzanne S; Devalle, Sylvie S; Röhrig, Ute F UF; Pagotto, Anna A; Michielin, Olivier O; Speiser, Daniel D; Wolchok, Jedd D JD; Liu, Cailian C; Pejovic, Tanja T; Odunsi, Kunle K; Brasseur, Francis F; Van den Eynde, Benoit J BJ; Old, Lloyd J LJ; Lu, Xin X; Cebon, Jonathan J; Strausberg, Robert L RL; Simpson, Andrew J AJ

Publication Date: 2010-09-16

Variant appearance in text: BRAF: G593S

PubMed Link: 20862285

Variant Present in the following documents:

• Main text

View BVdb publication page

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